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https://hdl.handle.net/1822/2942
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Campo DC | Valor | Idioma |
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dc.contributor.author | Shi, Jinxiu | - |
dc.contributor.author | Shibayama, Akane | - |
dc.contributor.author | Liu, Qiang | - |
dc.contributor.author | Nguyen, Vu Q. | - |
dc.contributor.author | Feng, Jinong | - |
dc.contributor.author | Santos, Mónica | - |
dc.contributor.author | Temudo, Teresa | - |
dc.contributor.author | Maciel, P. | - |
dc.contributor.author | Sommer, Steve S. | - |
dc.date.accessioned | 2005-09-16T11:13:25Z | - |
dc.date.available | 2005-09-16T11:13:25Z | - |
dc.date.issued | 2005 | - |
dc.identifier.citation | SHI, Jinxiu [et al.] - Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). "Human Mutation" [Em linha]. 25:5 (2005) 505. [Consult. 16 Set. 2005]. Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/110472357/PDFSTART. ISSN 1098-1004. | eng |
dc.identifier.issn | 1059-7794 | eng |
dc.identifier.uri | https://hdl.handle.net/1822/2942 | - |
dc.description.abstract | Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were developed as a rapid, convenient and accurate method to detect large heterozygous deletions and duplications. A blinded analysis was performed for 65 RTT cases from Portugal by RDPCR in the coding exons 2-4 of the MECP2 gene. Neither the patients with point mutations nor the non-classical RTT patients without point mutation had a deletion or duplication. One of remaining eight female patients with classical RTT without point mutation had a heterozygous deletion. This is the first report of a deletion spanning the entire MECP2 gene. The deletion was confirmed by southern blotting analysis and the deletion junction was localized 37kb upstream from exon 1 and 18kb downstream from exon 4. No duplications were detected. Our results suggest that RD-PCR is an accurate and convenient molecular diagnostic method. | eng |
dc.language.iso | eng | eng |
dc.publisher | John Wiley and Sons | eng |
dc.rights | openAccess | eng |
dc.subject | Rett syndrome | eng |
dc.subject | MECP2 | eng |
dc.subject | RD-PCR | eng |
dc.subject | Heterozygous deletion | eng |
dc.title | Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR) | eng |
dc.type | article | por |
dc.peerreviewed | yes | eng |
dc.relation.publisherversion | https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.9338 | eng |
sdum.number | 5 | eng |
sdum.pagination | 505 | eng |
sdum.publicationstatus | published | eng |
sdum.volume | 25 | eng |
dc.identifier.eissn | 1098-1004 | - |
dc.identifier.doi | 10.1002/humu.9338 | - |
sdum.journal | Human Mutation | por |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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RETT_DEL_2005.pdf | 272,44 kB | Adobe PDF | Ver/Abrir |